Varaico: Literature-Extracted Genetic Variants

Gene:ABHD1
Variant:p.F250L

ABHD1

34 papers

RefSeq Summary

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic ...

Pfam Domains

Abhydrolase_1aa 123–365UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 1

HGNC Alias Symbols

LABH1; FLJ36128

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032604.4
p.F250L
c.750C>G
Surrounding Variants
1 paper
NM_032604.4
p.F250L
c.750C>A
1 paper
NM_032604.4
p.N251fs
c.751_752fs
1 paper
NM_032604.4
p.F250L
c.748T>C
1 paper
NM_032604.4
p.R239C
c.715C>T
3 papers
NM_032604.4
p.R264*
c.790C>T
1 paper
NM_032604.4
p.A224_T227del4
c.670_680del12
1 paper
NM_032604.4
p.V273V
c.819G>A
1 paper
NM_032604.4
p.D274N
c.820G>A
1 paper
NM_032604.4
p.Q286R
c.857A>G
1 paper
NM_032604.4
p.R168W
c.502C>T
1 paper
NM_032604.4
p.G164R
c.490G>A
1 paper
NM_032604.4
p.G164R
c.490G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."